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Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses [PDF]
Frontiers in Neurology, 2022 Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder. Common clinical features include epileptic seizures, progressive cognitive and
Federico Vigevano +2 more
exaly +7 more sources
Neuronal ceroid lipofuscinoses in children [PDF]
Annals of Indian Academy of Neurology, 2021 Background: The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types.
Mahesh Kamate +3 more
doaj +4 more sources
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 [PDF]
Frontiers in Genetics, 2022 Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 ...
Yang Gu, QINGHE Xing, Ye Cheng
exaly +4 more sources
Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses [PDF]
Frontiers in Neurology, 2022 BackgroundThe Neuronal Ceroid Lipofuscinoses (NCLs) may be considered distinct neurodegenerative disorders with separate underlying molecular causes resulting from monogenetic mutations.
John Østergaard +2 more
exaly +4 more sources
Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses [PDF]
Frontiers in Neurology, 2022 The neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative lysosomal storage disorders mainly affecting the brain and the retina.
Stephan Storch, Udo Bartsch
exaly +4 more sources
Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease) [PDF]
Frontiers in Cell and Developmental Biology, 2022 The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been identified that are each linked
William D. Kim +7 more
doaj +2 more sources
Pathomechanisms in the neuronal ceroid lipofuscinoses
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2020 The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical symptoms. The recent emergence of new forms of NCL along with an improved understanding of endo-lysosomal system function have necessitated the reassessment of their ...
Jenny Lange +2 more
exaly +3 more sources
Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses
Neurobiology of Disease, 2005 Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage disorders characterized pathologically by neuronal accumulation of autofluorescent storage material and neurodegeneration. An ovine NCL form is caused by a recessive point mutation in
Gerald Rubin +2 more
exaly +3 more sources
Neural Regeneration Research, 2023 Evidence from genetics and from analyzing cellular and animal models have converged to suggest links between neurodegenerative disorders of early and late life. Here, we summarize emerging links between the most common late life neurodegenerative disease,
Marcel Klein, Guido Hermey
doaj +1 more source
Neuronal ceroid lipofuscinosis: A case report
Bangabandhu Sheikh Mujib Medical University Journal, 2023 Neuronal ceroid lipofuscinoses (NCL) represent severe neurodegenerative conditions which is one of the lysosomal storage disorders. There are four main clinical forms of NCL among which late infantile variety is the second most common condition.
Gopen Kumar Kundu +4 more
doaj +1 more source